Canonical Allele Identifier: CA394655552
Community Standard Title: NM_024589.3(ROGDI):c.118-2A>C
Gene: ROGDI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4801587T>G , CM000678.2:g.4801587T>G GRCh38
NC_000016.9:g.4851588T>G , CM000678.1:g.4851588T>G GRCh37
NC_000016.8:g.4791589T>G NCBI36
NG_032174.1:g.6364A>C , LRG_455:g.6364A>C

Transcript Alleles

HGVS Amino-acid Change
NM_024589.3:c.118-2A>C MANE Select NP_078865.1:n.118-2A>C
ENST00000322048.12:c.118-2A>C MANE Select ENSP00000322832.6:n.118-2A>C
NM_024589.2:c.118-2A>C , LRG_455t1:c.118-2A>C NP_078865.1:n.118-2A>C
NR_046480.1:n.497-2A>C
NR_046480.2:n.180-2A>C
ENST00000322048.11:c.118-2A>C ENSP00000322832.5:n.118-2A>C
ENST00000585653.1:n.250-2A>C
ENST00000585871.1:n.427-2A>C
ENST00000586336.5:n.272-2A>C
ENST00000587377.5:c.118-2A>C ENSP00000468343.1:n.118-2A>C
ENST00000587711.5:c.117+795A>C ENSP00000467459.1:n.117+795A>C
ENST00000587843.5:c.118-2A>C ENSP00000465970.1:n.118-2A>C
ENST00000588201.5:c.118-2A>C ENSP00000466529.1:n.118-2A>C
ENST00000589543.5:n.73A>C
ENST00000590198.1:n.285-2A>C
ENST00000591292.5:n.576A>C
ENST00000591392.5:c.46-2A>C ENSP00000467509.1:n.46-2A>C
XM_006720947.2:c.118-2A>C XP_006721010.1:n.118-2A>C
XM_006720947.4:c.118-2A>C XP_006721010.1:n.118-2A>C
XM_006720948.2:c.-98-2A>C XP_006721011.1:n.-98-2A>C
XM_006720948.4:c.-98-2A>C XP_006721011.1:n.-98-2A>C